Scientists encourage genetic data sharing

By Helen Albert, Senior medwireNews Reporter

medwireNews:Incomplete access to private databases containing vital genetic information may hinder the development of personalized medicine, say researchers.

Robert Cook-Deegan (Duke University, Durham, North Carolina, USA) and colleagues explain that whole genome analysis has the potential to significantly improve medical care if utilized correctly, but say that interpreting variants of unknown significance can prove challenging.

Private genetic databases run by companies, such as Myriad Genetics in the USA, contain important information that may be vital to interpreting such variants, but "incomplete access to those databases threatens to impede the clinical interpretation of genomic medicine," write the investigators in a policy article in the European Journal of Human Genetics.

Myriad Genetics is the sole provider of BRCA1/2 mutations in the USA and offers significant patient benefits, such as free testing of family members to try and determine an unknown variant's significance.

However, the company has been criticized as they have access to the public databases and their own database for interpretation purposes, but outside researchers are not allowed access to the Myriad database. The company released a few sequences to the public, but access ended in 2004 and the algorithms needed to interpret those sequences that have been released are not readily available.

"We are very concerned that such important data is being withheld from those who most need it," said Martina Cornel, from the European Society of Human Genetics Professional and Public Policy committee, in a press statement.

"By not sharing their data on the variants of unknown significance obtained from individuals undergoing BRCA1/2 testing, where Myriad is the sole commercial provider of a test in the US, geneticists have been unable to develop the up-to-date algorithms that are necessary to best interpret the effects of genetic variants," she added.

Cook-Deegan and colleagues say that problems with information sharing need to be addressed, for example, by providing incentives to companies to share data. They highlight that the USA has so far failed to put such schemes in place, but say that there is still a chance for such schemes to be instituted in Europe.

"I hope European countries will do what the United States has so far failed to do by requiring laboratories to share their data as a condition of payment for or regulatory approval of laboratory services," Cook-Deegan commented. "A national health care system could refuse to pay for tests that they cannot independently verify or interpret. Or perhaps Myriad will decide to resume sharing their data - wouldn't that be nice?"

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